Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: Evidence for a Founder Effect in Patients of British Descent

Gavin Lucas, Lynne Hocking, Anna Daroszewska, T. Cundy, G. C. Nicholson, J. P. Walsh, W. D. Fraser, C. Meier, M. J. Hooper, S Ralston

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40 Citations (Scopus)


Mutations in the UBA domain of SQSTM1 are a common cause of Paget's disease of bone. Here we show that the most common disease-causing mutation (P392L) is carried on a shared haplotype, consistent with a founder effect and a common ancestral origin.

Original languageEnglish
Pages (from-to)227-231
Number of pages5
JournalJournal of Bone and Mineral Research
Issue number2
Early online date16 Nov 2004
Publication statusPublished - Feb 2005


  • Paget's disease of bone
  • genetic
  • SQSTM1
  • haplotype
  • founder effect
  • genetic-heterogeneity
  • familial aggregation
  • chromosome 18Q
  • identification
  • Netherlands
  • prevalence
  • linkage
  • loci

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